An Intervention to Increase Genetic Testing in Families Who May Share a Gene Mutation Related to Cancer Risk and An Intervention to Help Patients and Their Primary Care Providers Stay Up-to-date About Uncertain Genetic Test Results

Description

The purpose of this study is to examine the impact of new cancer genetic counseling models that aim to increase patient engagement with the genetics team. To do this, the study consists of two trials to evaluate two related interventions. The first trial is the EfFORT Trial, which evaluates a cascade genetic testing intervention. Cascade testing is the process of offering genetic testing to people who are at risk of having inherited a possibly harmful gene change that has been found in their family. The study will look at how often genetic testing occurs when healthcare providers have permission to reach out to family members to recommend genetic testing and to help those who are interested get tested. The study will look at whether this cascade testing intervention is practical and effective. The study would like to see how this approach of healthcare providers reaching out directly to family members compares with the usual approach of patients telling their family members about the recommendation to get genetic testing. The second trial is the STRIVE Trial, which evaluates an intervention designed to help patients who receive an uncertain result from genetic testing (also called a "variant of uncertain significance") stay connected with their genetics care team, and to help patients and their primary care providers stay up-to-date about the meaning of uncertain genetic test results. The study will look at whether an intervention that consists of a study online portal for patients with uncertain genetic test results and their primary care providers will help them to stay up-to-date on the meaning of uncertain genetic test results. The study would like to see how this intervention compares to the usual approach of encouraging patients to re-contact their genetics care team on their own about a year after getting genetic testing."

Conditions

BRCA1 Mutation, POLD1 Gene Mutation, CDKN2A Mutation, BRCA2 Mutation, POLE Gene Mutation, APC Gene Mutation, ATM Gene Mutation, MLH1 Gene Mutation, BARD1 Gene Mutation, MSH2 Gene Mutation, BRIP1 Gene Mutation, MSH6 Gene Mutation, CHEK2 Gene Mutation, PMS2 Gene Mutation, PALB2 Gene Mutation, EPCAM Gene Mutation, RAD51C Gene Mutation, BMPR1A Gene Mutation, RAD51D Gene Mutation, SMAD4, PTEN Gene Mutation, GREM1

Study Overview

Study Details

Study overview

The purpose of this study is to examine the impact of new cancer genetic counseling models that aim to increase patient engagement with the genetics team. To do this, the study consists of two trials to evaluate two related interventions. The first trial is the EfFORT Trial, which evaluates a cascade genetic testing intervention. Cascade testing is the process of offering genetic testing to people who are at risk of having inherited a possibly harmful gene change that has been found in their family. The study will look at how often genetic testing occurs when healthcare providers have permission to reach out to family members to recommend genetic testing and to help those who are interested get tested. The study will look at whether this cascade testing intervention is practical and effective. The study would like to see how this approach of healthcare providers reaching out directly to family members compares with the usual approach of patients telling their family members about the recommendation to get genetic testing. The second trial is the STRIVE Trial, which evaluates an intervention designed to help patients who receive an uncertain result from genetic testing (also called a "variant of uncertain significance") stay connected with their genetics care team, and to help patients and their primary care providers stay up-to-date about the meaning of uncertain genetic test results. The study will look at whether an intervention that consists of a study online portal for patients with uncertain genetic test results and their primary care providers will help them to stay up-to-date on the meaning of uncertain genetic test results. The study would like to see how this intervention compares to the usual approach of encouraging patients to re-contact their genetics care team on their own about a year after getting genetic testing."

Digital Technology to Enhance Access to and Effectiveness of Cancer Genetic Counseling: Effective Familial OutReach Via Tele-genetics (EfFORT) Trial & Supporting Test Result Interpretation and Variant Education (STRIVE) Trial

An Intervention to Increase Genetic Testing in Families Who May Share a Gene Mutation Related to Cancer Risk and An Intervention to Help Patients and Their Primary Care Providers Stay Up-to-date About Uncertain Genetic Test Results

Condition
BRCA1 Mutation
Intervention / Treatment

-

Contacts and Locations

Basking Ridge

Memorial Sloan Kettering Basking Ridge (Limited Protocol Activities), Basking Ridge, New Jersey, United States, 07920

Middletown

Memorial Sloan Kettering Monmouth (Limited Protocol Activities), Middletown, New Jersey, United States, 07748

Montvale

Memorial Sloan Kettering Bergen (Limited Protocol Activity), Montvale, New Jersey, United States, 07645

Commack

Memorial Sloan Kettering Suffolk - Commack (Limited Protocol Activities), Commack, New York, United States, 11725

Harrison

Memorial Sloan Kettering Westchester (Limited Protocol Activities), Harrison, New York, United States, 10604

New York

Memorial Sloan Kettering Cancer Center, New York, New York, United States, 10021

New York

MSK at Ralph Lauren (Limited Protocol Activities), New York, New York, United States, 10035

Uniondale

Memorial Sloan Kettering Nassau (Limited Protocol Activity), Uniondale, New York, United States, 11553

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

For general information about clinical research, read Learn About Studies.

Eligibility Criteria

  • * Current MSK patient
  • * Received post-test genetic counseling from MSK Clinical Genetics Service within the last 3 months
  • * 25 years of age or older
  • * Self-reported "very well" comprehension of written and verbal English language
  • * Has at least one ARR who meets criteria for study enrollment (see below)
  • * First in the family to test positive for PV at MSK in any of the following cancer susceptibility genes, or an ARR of an MSK proband who converted to the proband role:
  • * Biological first-, second-, or third- degree relative of enrolled MSK proband
  • * 25 years of age or older
  • * Resides within the United States
  • * Self-reported medical insurance which can be in or out of network with MSK
  • * Self-reported "very well" comprehension of written and verbal English language
  • * Current MSK patient
  • * Received post-test genetic counseling from MSK Clinical Genetics Service within the last 3 months
  • * 25 years of age or older
  • * Self-reported "very well" comprehension of written and verbal English language
  • * Has a VUS identified in any of the following cancer predisposition genes:
  • * Designated healthcare provider for an enrolled VUS patient
  • * Resides within the United States
  • * Is unwilling or unable to provide informed consent
  • * Is unwilling or unable to create a MyMSK patient portal account (see section 3.0 on MyMSK patient usage at MSK and CGS)
  • * Does not have an email address
  • * Has enrolled in the STRIVE trial
  • * Is unwilling or unable to provide informed consent
  • * Is unwilling or unable to create a MyMSK patient portal account
  • * Has previously undergone genetic testing for the familial PV
  • * Does not have an email address
  • * Has opted out of study contact
  • * Is unwilling or unable to provide informed consent
  • * Is unwilling or unable to create a MyMSK patient portal account (see section 3.0 on MyMSK patient usage at MSK and CGS)
  • * Does not have an email address
  • * Has enrolled in the EfFORT trial
  • * Contact information not available

Ages Eligible for Study

25 Years to

Sexes Eligible for Study

ALL

Accepts Healthy Volunteers

Yes

Collaborators and Investigators

Memorial Sloan Kettering Cancer Center,

Kenneth Offit, MD, MPH, PRINCIPAL_INVESTIGATOR, Memorial Sloan Kettering Cancer Center

Study Record Dates

2026-11-30